This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, i... See more...

Aliases for TPM3 Gene

Aliases for TPM3 Gene

  • Tropomyosin 3 2 3 5
  • Tropomyosin Alpha-3 Chain 3 4
  • Tropomyosin-5 3 4
  • Epididymis Secretory Sperm Binding Protein Li 82p 3
  • Heat-Stable Cytoskeletal Protein 30 KDa 3
  • Alpha-Tropomyosin, Slow Skeletal 3
  • Epididymis Luminal Protein 189 3
  • Cytoskeletal Tropomyosin TM30 3
  • Tropomyosin Gamma 3
  • Gamma-Tropomyosin 4
  • Tropomyosin 3 Nu 3
  • Tropomyosin-3 4
  • OK/SW-Cl.5 3
  • HEL-S-82p 3
  • HEL-189 3
  • TM30nm 3
  • TPM3nu 3
  • TPMsk3 3
  • Hscp30 3
  • CAPM1 3
  • CFTD 3
  • TM-5 3
  • TM30 3
  • NEM1 3
  • HTM5 4
  • TM3 3
  • TM5 3
  • TRK 3

External Ids for TPM3 Gene

Previous HGNC Symbols for TPM3 Gene

  • NEM1

Previous GeneCards Identifiers for TPM3 Gene

  • GC01U990171
  • GC01M149859
  • GC01M150904
  • GC01M151345
  • GC01M150941
  • GC01M152395
  • GC01M125491

Summaries for TPM3 Gene

Entrez Gene Summary for TPM3 Gene

  • This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

GeneCards Summary for TPM3 Gene

TPM3 (Tropomyosin 3) is a Protein Coding gene. Diseases associated with TPM3 include Nemaline Myopathy 1 and Myopathy, Congenital, With Fiber-Type Disproportion. Among its related pathways are Cardiac conduction and Pathways in cancer. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is TPM2.

UniProtKB/Swiss-Prot Summary for TPM3 Gene

  • Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments.

Gene Wiki entry for TPM3 Gene

Additional gene information for TPM3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TPM3 Gene

Genomics for TPM3 Gene

GeneHancer (GH) Regulatory Elements for TPM3 Gene

Promoters and enhancers for TPM3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TPM3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TPM3

Top Transcription factor binding sites by QIAGEN in the TPM3 gene promoter:
  • ARP-1
  • C/EBPalpha
  • MRF-2
  • Pax-4a
  • POU3F1
  • Zic3

Genomic Locations for TPM3 Gene

Genomic Locations for TPM3 Gene
chr1:154,155,304-154,194,648
(GRCh38/hg38)
Size:
39,345 bases
Orientation:
Minus strand
chr1:154,127,780-154,167,124
(GRCh37/hg19)
Size:
39,345 bases
Orientation:
Minus strand

Genomic View for TPM3 Gene

Genes around TPM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPM3 Gene

Proteins for TPM3 Gene

  • Protein details for TPM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06753-TPM3_HUMAN
    Recommended name:
    Tropomyosin alpha-3 chain
    Protein Accession:
    P06753
    Secondary Accessions:
    • D3DV71
    • P12324
    • Q2QD06
    • Q5VU58
    • Q5VU63
    • Q5VU66
    • Q5VU71
    • Q5VU72
    • Q8TCG3
    • Q969Q2
    • Q9NQH8

    Protein attributes for TPM3 Gene

    Size:
    285 amino acids
    Molecular mass:
    32950 Da
    Quaternary structure:
    • Homodimer. Heterodimer of an alpha (TPM1, TPM3 or TPM4) and a beta (TPM2) chain (By similarity). Interacts with TMOD1 (PubMed:8002995).
    Miscellaneous:
    • [Isoform 2]: Peptides 2-27, 41-55, 132-153, 163-169, 216-225 and 237-248 have been identified and sequenced by MS. Ref.8 (ABC40673) sequence corresponds to a TPM3 retrocopy (rcTPM3) on chromosome 16 that is generated by retroposition of reversed transcribed mRNA back to the genome. rcTPM3 functionality is uncertain. It has been detected by MS in primary breast cancer tissues.
    • [Isoform 3]: Peptides 2-27, 41-55, 132-153 and 163-169 have been identified and sequenced by MS.

    Three dimensional structures from OCA and Proteopedia for TPM3 Gene

    Alternative splice isoforms for TPM3 Gene

neXtProt entry for TPM3 Gene

Post-translational modifications for TPM3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TPM3 Gene

Domains & Families for TPM3 Gene

Gene Families for TPM3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TPM3 Gene

Blocks:
  • Tropomyosin
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TPM3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ32435 fis, clone SKMUS2001287, highly similar to Tropomyosin alpha-3 chain (Q5VU62_HUMAN)
  • Tropomyosin 3 (Q5VU64_HUMAN)
  • Tropomyosin 3 (Q5VU70_HUMAN)
  • cDNA FLJ35393 fis, clone SKNSH2000971, highly similar to TROPOMYOSIN, CYTOSKELETAL TYPE (Q8NAG3_HUMAN)
  • Cytoskeletal tropomyosin TM30 (Q8NI98_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P06753

UniProtKB/Swiss-Prot:

TPM3_HUMAN :
  • The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven-residues periodicity.
  • Belongs to the tropomyosin family.
Domain:
  • The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven-residues periodicity.
Family:
  • Belongs to the tropomyosin family.
genes like me logo Genes that share domains with TPM3: view

Function for TPM3 Gene

Molecular function for TPM3 Gene

UniProtKB/Swiss-Prot Function:
Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments.
GENATLAS Biochemistry:
tropomyosin 3,alpha,skeletal muscle and non muscle isoforms (involved in the generation of the TRK oncogene by fusion with NTRK1,dimerizing to form a helical coiled coil binding to actin in the troponin complex (thin filamant) that regulates calcium-dependent binding of actin and myosin and muscle contraction

Phenotypes From GWAS Catalog for TPM3 Gene

Gene Ontology (GO) - Molecular Function for TPM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0051015 actin filament binding IBA 21873635
genes like me logo Genes that share ontologies with TPM3: view
genes like me logo Genes that share phenotypes with TPM3: view

Human Phenotype Ontology for TPM3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TPM3 Gene

MGI Knock Outs for TPM3:

miRNA for TPM3 Gene

miRTarBase miRNAs that target TPM3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TPM3 Gene

Localization for TPM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPM3 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TPM3 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 3
extracellular 3
nucleus 3
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TPM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 16236705
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 16130169
GO:0005862 muscle thin filament tropomyosin TAS 3018581
genes like me logo Genes that share ontologies with TPM3: view

Pathways & Interactions for TPM3 Gene

genes like me logo Genes that share pathways with TPM3: view

SIGNOR curated interactions for TPM3 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for TPM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS --
GO:0007015 actin filament organization IBA 21873635
GO:0030049 muscle filament sliding TAS --
genes like me logo Genes that share ontologies with TPM3: view

Drugs & Compounds for TPM3 Gene

(3) Drugs for TPM3 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
Phenethyl isothiocyanate Investigational Pharma Target 14
genes like me logo Genes that share compounds with TPM3: view

Transcripts for TPM3 Gene

mRNA/cDNA for TPM3 Gene

15 REFSEQ mRNAs :
54 NCBI additional mRNA sequence :
27 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TPM3 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: - - -
SP2:
SP3: -
SP4: -
SP5: -
SP6:

Relevant External Links for TPM3 Gene

GeneLoc Exon Structure for
TPM3

Expression for TPM3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TPM3 Gene

mRNA differential expression in normal tissues according to GTEx for TPM3 Gene

This gene is overexpressed in Muscle - Skeletal (x16.2) and Whole Blood (x4.4).

Protein differential expression in normal tissues from HIPED for TPM3 Gene

This gene is overexpressed in Liver, secretome (6.8) and Peripheral blood mononuclear cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TPM3 Gene



Protein tissue co-expression partners for TPM3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TPM3

SOURCE GeneReport for Unigene cluster for TPM3 Gene:

Hs.644306

Evidence on tissue expression from TISSUES for TPM3 Gene

  • Muscle(5)
  • Skin(4.8)
  • Kidney(4.7)
  • Nervous system(4.7)
  • Blood(4.6)
  • Liver(4.5)
  • Bone(4.4)
  • Lung(4.4)
  • Eye(3.8)
  • Pancreas(3.8)
  • Intestine(3.7)
  • Heart(2.6)
  • Spleen(2.5)
  • Bone marrow(2.3)
  • Lymph node(2.2)
  • Stomach(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TPM3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • stomach
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TPM3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for TPM3 Gene

Orthologs for TPM3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TPM3 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia TPM3 31
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TPM3 31
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TPM3 31
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TPM3 31 30
  • 96.24 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TPM3 31
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tpm3 17 31 30
  • 84.74 (n)
chicken
(Gallus gallus)
Aves TPM3 31
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 100 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.34726 30
zebrafish
(Danio rerio)
Actinopterygii tpma 31
  • 93 (a)
OneToOne
tpm3 30
  • 81.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta Tm2 31
  • 46 (a)
ManyToMany
Tm1 31
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lev-11 31
  • 59 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11015 31
  • 74 (a)
ManyToMany
CSA.10371 31
  • 67 (a)
ManyToMany
Species where no ortholog for TPM3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TPM3 Gene

ENSEMBL:
Gene Tree for TPM3 (if available)
TreeFam:
Gene Tree for TPM3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TPM3: view image

Paralogs for TPM3 Gene

Paralogs for TPM3 Gene

(8) SIMAP similar genes for TPM3 Gene using alignment to 11 proteins:

  • TPM3_HUMAN
  • D6R904_HUMAN
  • D6RFM2_HUMAN
  • D6RGJ6_HUMAN
  • J3KN67_HUMAN
  • Q5VU58_HUMAN
  • Q5VU59_HUMAN
  • Q5VU61_HUMAN
  • Q5VU62_HUMAN
  • Q5VU63_HUMAN
  • Q8TCG3_HUMAN
genes like me logo Genes that share paralogs with TPM3: view

Variants for TPM3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TPM3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
647207 Uncertain Significance: Congenital myopathy with fiber type disproportion; Nemaline myopathy 1 154,170,414(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
652272 Uncertain Significance: Congenital myopathy with fiber type disproportion; Nemaline myopathy 1 154,170,689(-) T/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
652762 Likely Pathogenic: Congenital myopathy with fiber type disproportion; Nemaline myopathy 1 154,176,221(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
670244 Benign: not provided 154,171,584(-) T/TAG INTRON_VARIANT
670799 Benign: not provided 154,191,050(-) G/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for TPM3 Gene

Structural Variations from Database of Genomic Variants (DGV) for TPM3 Gene

Variant ID Type Subtype PubMed ID
esv2663393 CNV deletion 23128226
esv29020 CNV loss 19812545
esv3587601 CNV loss 21293372
nsv1000153 CNV gain 25217958
nsv1119725 CNV deletion 24896259
nsv520398 CNV gain+loss 19592680
nsv946404 CNV duplication 23825009

Variation tolerance for TPM3 Gene

Residual Variation Intolerance Score: 26.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TPM3 Gene

Human Gene Mutation Database (HGMD)
TPM3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TPM3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPM3 Gene

Disorders for TPM3 Gene

MalaCards: The human disease database

(27) MalaCards diseases for TPM3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

TPM3_HUMAN
  • Nemaline myopathy 1 (NEM1) [MIM:609284]: A form of nemaline myopathy with autosomal dominant or recessive inheritance. Nemaline myopathies are disorders characterized by muscle weakness of varying onset and severity, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Autosomal dominant NEM1 is characterized by a moderate phenotype with onset between birth and early second decade of life. Weakness is diffuse and symmetric with slow progression often with need for a wheelchair in adulthood. The autosomal recessive form has onset at birth with moderate to severe hypotonia and diffuse weakness. In the most severe cases, death can occur before 2 years. Less severe cases have delayed major motor milestones, and these patients may walk, but often need a wheelchair before 10 years. {ECO:0000269 PubMed:10587521, ECO:0000269 PubMed:17376686, ECO:0000269 PubMed:24692096, ECO:0000269 PubMed:7704029}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving TPM3 is found in papillary thyroid carcinomas (PTCs). A rearrangement with NTRK1 generates the TRK fusion transcript by fusing the amino end of isoform 2 of TPM3 to the 3'-end of NTRK1. {ECO:0000269 PubMed:2869410}.
  • Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. {ECO:0000269 PubMed:18300303, ECO:0000269 PubMed:19953533, ECO:0000269 PubMed:20951040, ECO:0000269 PubMed:24692096}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cap myopathy 1 (CAPM1) [MIM:609284]: A rare congenital skeletal muscle disorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins. Clinical features are early onset of hypotonia and slowly progressive muscle weakness. Respiratory problems are common. {ECO:0000269 PubMed:18300303, ECO:0000269 PubMed:19487656, ECO:0000269 PubMed:19553118, ECO:0000269 PubMed:24239060, ECO:0000269 PubMed:24692096}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TPM3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TPM3: view

No data available for Genatlas for TPM3 Gene

Publications for TPM3 Gene

  1. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. (PMID: 19953533) Lawlor MW … Beggs AH (Human mutation 2010) 3 4 23 54
  2. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. (PMID: 7704029) Laing NG … Love DR (Nature genetics 1995) 3 4 23 54
  3. A systematic nomenclature for mammalian tropomyosin isoforms. (PMID: 25369766) Geeves MA … Gunning PW (Journal of muscle research and cell motility 2015) 2 3 54
  4. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. (PMID: 24692096) Marttila M … Wallgren-Pettersson C (Human mutation 2014) 3 4 54
  5. Novel TPM3 mutation in a family with cap myopathy and review of the literature. (PMID: 24239060) Schreckenbach T … Claeys KG (Neuromuscular disorders : NMD 2014) 3 4 54

Products for TPM3 Gene

Sources for TPM3 Gene